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Analysis of CDKN2A gene alterations in recurrent and non-recurrent meningioma
Guyot, Anne, Duchesne, Mathilde, Robert, Sandrine, Lia, Anne-Sophie, Derouault, Paco, Scaon, Erwan, Lemnos, Leslie, Salle, Henri, Durand, Karine, Labrousse, François
Published in Journal of neuro-oncology (01.12.2019)
Published in Journal of neuro-oncology (01.12.2019)
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Journal Article
Addressing myelination disorders: Novel strategies using human 3D peripheral nerve model
Loret, Camille, Scherrer, Camille, Rovini, Amandine, Lesage, Esther, Richard, Laurence, Danigo, Aurore, Sturtz, Franck, Favreau, Frédéric, Faye, Pierre-Antoine, Lia, Anne-Sophie
Published in Brain research bulletin (01.03.2025)
Published in Brain research bulletin (01.03.2025)
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Journal Article
HINT1 neuropathy: Expanding the genotype and phenotype spectrum
Morel, Victor, Campana‐Salort, Emmanuelle, Boyer, Amandine, Esselin, Florence, Walther‐Louvier, Ulrike, Querin, Giorgia, Latour, Philippe, Lia, Anne‐Sophie, Magdelaine, Corinne, Beze‐Beyrie, Pierre, Behin, Anthony, Delague, Valérie, Levy, Nicolas, Stojkovic, Tanya, Attarian, Shahram, Bonello‐Palot, Nathalie
Published in Clinical genetics (01.11.2022)
Published in Clinical genetics (01.11.2022)
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Journal Article
EGR2 gene‐linked hereditary neuropathies present with a bimodal age distribution at symptoms onset
Echaniz‐Laguna, Andoni, Cauquil, Cécile, Chanson, Jean‐Baptiste, Tard, Céline, Guyant‐Marechal, Lucie, Kuntzer, Thierry, Ion, Ioana Maria, Lia, Anne‐Sophie, Bouligand, Jérôme, Poinsignon, Vianney
Published in Journal of the peripheral nervous system (01.09.2023)
Published in Journal of the peripheral nervous system (01.09.2023)
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Journal Article
Advances in modeling the Charcot-Marie-Tooth disease: Human induced pluripotent stem cell-derived Schwann cells harboring SH3TC2 variants
Loret, Camille, Scherrer, Camille, Rovini, Amandine, Pyromali, Ioanna, Faye, Pierre-Antoine, Nizou, Angélique, Sturtz, Franck, Favreau, Frédéric, Lia, Anne-Sophie
Published in European journal of cell biology (01.06.2025)
Published in European journal of cell biology (01.06.2025)
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Journal Article
TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023
Ait Tayeb, Abd El Kader, Chazelas, Pauline, Poinsignon, Vianney, Adams, David, Berthot, Caroline, Cauquil, Cécile, Dhaenens, Claire‐Marie, Francou, Bruno, Jedraszak, Guillaume, Labeyrie, Céline, Redondo, Clara Laffitte, Lia, Anne‐Sophie, Lopez, Maureen, Proust, Alexis, Sturtz, Franck, Tosca, Lucie, Verstuyft, Céline, Echaniz‐Laguna, Andoni, Bouligand, Jérôme
Published in European journal of neurology (01.04.2025)
Published in European journal of neurology (01.04.2025)
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Journal Article
CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
Derouault, Paco, Chauzeix, Jasmine, Rizzo, David, Miressi, Federica, Magdelaine, Corinne, Bourthoumieu, Sylvie, Durand, Karine, Dzugan, Hélène, Feuillard, Jean, Sturtz, Franck, Mérillou, Stéphane, Lia, Anne-Sophie
Published in PLoS computational biology (12.02.2020)
Published in PLoS computational biology (12.02.2020)
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Journal Article
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene‐Related Demyelinating Peripheral Neuropathy
Jaubert, Pauline, Loret, Camille, Stojkovic, Tanya, Attarian, Shahram, Bonello‐Palot, Nathalie, Bouhour, Françoise, Camdessanche, Jean‐Philippe, Cassereau, Julien, Chanson, Jean‐Baptiste, Cintas, Pascal, Creange, Alain, Esselin, Florence, Genestet, Steeve, Giordano, Sophie, Gitiaux, Cyril, Guillaud‐Bataille, Marine, Isapof, Arnaud, Kumaran, Deiva, Labeyrie, Céline, Laugel, Vincent, Leonard‐Louis, Sarah, Lozeron, Pierre, Magy, Laurent, Mercier, Sandra, Merle, Philippe, Michaud, Maud, Nicolas, Guillaume, Ollagnon, Elisabeth, Pereon, Yann, Puma, Angela, Poinsignon, Vianney, Roy, Susana Quijano, Sole, Guilhem, Tard, Céline, Vidoni, Léo, Lia, Anne‐Sophie, Echaniz‐Laguna, Andoni
Published in European journal of neurology (01.08.2025)
Published in European journal of neurology (01.08.2025)
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Journal Article
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature
Lerat, Justine, Magdelaine, Corinne, Beauvais‐Dzugan, Hélène, Espil, Caroline, Ghorab, Karima, Latour, Philippe, Derouault, Paco, Sturtz, Franck, Lia, Anne‐Sophie
Published in Journal of the peripheral nervous system (01.03.2019)
Published in Journal of the peripheral nervous system (01.03.2019)
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Journal Article
Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons
Benslimane, Nesrine, Loret, Camille, Chazelas, Pauline, Favreau, Frédéric, Faye, Pierre-Antoine, Lejeune, Fabrice, Lia, Anne-Sophie
Published in Pharmaceuticals (Basel, Switzerland) (28.02.2024)
Published in Pharmaceuticals (Basel, Switzerland) (28.02.2024)
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Journal Article
A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature
Lerat, Justine, Cintas, Pascal, Beauvais‐Dzugan, Hélène, Magdelaine, Corinne, Sturtz, Franck, Lia, Anne‐Sophie
Published in Journal of the peripheral nervous system (01.06.2017)
Published in Journal of the peripheral nervous system (01.06.2017)
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Journal Article
Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot–Marie–Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene
Benslimane, Nesrine, Miressi, Federica, Loret, Camille, Richard, Laurence, Nizou, Angélique, Pyromali, Ioanna, Faye, Pierre-Antoine, Favreau, Frédéric, Lejeune, Fabrice, Lia, Anne-Sophie
Published in Pharmaceuticals (Basel, Switzerland) (21.07.2023)
Published in Pharmaceuticals (Basel, Switzerland) (21.07.2023)
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Journal Article
Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies
Correard, Solenne, Plassais, Jocelyn, Lagoutte, Laëtitia, Botherel, Nadine, Thibaud, Jean-Laurent, Hédan, Benoît, Richard, Laurence, Lia, Anne-Sophie, Delague, Valérie, Mège, Catherine, Mathis, Stéphane, Guaguère, Eric, Paradis, Manon, Vallat, Jean-Michel, Quignon, Pascale, André, Catherine
Published in Human genetics (01.05.2019)
Published in Human genetics (01.05.2019)
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Journal Article
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
Peretti, Alessia, Perie, Maud, Vincent, Didier, Bouhour, Françoise, Dieterich, Klaus, Mallaret, Martial, Duval, Fanny, Goizet, Cyril, Juntas-Morales, Raul, Magy, Laurent, Solé, Guilhem, Nollet, Sylvain, Not, Adeline, Léonard-Louis, Sarah, Francou, Bruno, Leguern, Eric, Lia, Anne-Sophie, Magdelaine, Corinne, Latour, Philippe, Stojkovic, Tanya
Published in European journal of human genetics : EJHG (01.09.2019)
Published in European journal of human genetics : EJHG (01.09.2019)
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Journal Article
A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing
Benquey, Thibaut, Pion, Emmanuelle, Cossée, Mireille, Krahn, Martin, Stojkovic, Tanya, Perrin, Aurélien, Cerino, Mathieu, Molon, Annamaria, Lia, Anne-Sophie, Magdelaine, Corinne, Francou, Bruno, Guiochon-Mantel, Anne, Malinge, Marie-Claire, Leguern, Eric, Lévy, Nicolas, Attarian, Shahram, Latour, Philippe, Bonello-Palot, Nathalie
Published in Genes (09.02.2022)
Published in Genes (09.02.2022)
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Journal Article
CRISPR Base Editing to Create Potential Charcot–Marie–Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants
Loret, Camille, Pauset, Amandine, Faye, Pierre-Antoine, Prouzet-Mauleon, Valérie, Pyromali, Ioanna, Nizou, Angélique, Miressi, Federica, Sturtz, Franck, Favreau, Frédéric, Turcq, Béatrice, Lia, Anne-Sophie
Published in Biomedicines (12.07.2024)
Published in Biomedicines (12.07.2024)
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Journal Article
Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment
Magy, Laurent, Chazelas, Pauline, Richard, Laurence, Deschamps, Nathalie, Frachet, Simon, Vallat, Jean-Michel, Magdelaine, Corinne, Favreau, Frédéric, Bessaguet, Flavien, Lia, Anne-Sophie, Duchesne, Mathilde
Published in Biomedicines (01.08.2022)
Published in Biomedicines (01.08.2022)
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Journal Article
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene
Pyromali, Ioanna, Benslimane, Nesrine, Favreau, Frédéric, Goizet, Cyril, Lazaro, Leila, Vitry, Martine, Derouault, Paco, Sturtz, Franck, Magdelaine, Corinne, Lia, Anne-Sophie
Published in Journal of personalized medicine (03.02.2022)
Published in Journal of personalized medicine (03.02.2022)
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Journal Article